about
Identification of DEP domain-containing proteins by a machine learning method and experimental analysis of their expression in human HCC tissues.DEPDC5 mutations in familial and sporadic focal epilepsy.GATOR1 complex: the common genetic actor in focal epilepsies.Precision medicine in genetic epilepsies: break of dawn?DEPDC5 as a potential therapeutic target for epilepsy.Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation.A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility.Delving Deeper into DEPDC5.Partial deletion of DEPDC5 in a child with focal epilepsy.
P2860
Q37522321-AAC2B44F-B9C1-41F8-A8CC-F46ADB4AB517Q38760382-D6473E61-7201-4D19-9F14-E88EA9023BFCQ38840542-B214DEEF-F1A5-44BA-82AF-AA9496FFA160Q38990891-51E6EC87-1C33-4B54-883E-6E1CDEA7F75CQ39239920-656F2B5D-97C4-488A-BF77-C36D5EABAF05Q39624169-9CCBEBCB-87C0-45A3-82F5-A6BF56F5884DQ47258496-8ACC4BB1-C4EC-4DC8-85CA-10C4DEF8346EQ55284087-D4302487-6CFE-4AF9-BB8E-0D825ECA8B1BQ55316725-E9DC4101-6A1C-48A4-9428-3CB49346F0B4
P2860
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Epileptic spasms are a feature of DEPDC5 mTORopathy.
@ast
Epileptic spasms are a feature of DEPDC5 mTORopathy.
@en
type
label
Epileptic spasms are a feature of DEPDC5 mTORopathy.
@ast
Epileptic spasms are a feature of DEPDC5 mTORopathy.
@en
prefLabel
Epileptic spasms are a feature of DEPDC5 mTORopathy.
@ast
Epileptic spasms are a feature of DEPDC5 mTORopathy.
@en
P2093
P2860
P50
P1433
P1476
Epileptic spasms are a feature of DEPDC5 mTORopathy
@en
P2093
A Simon Harvey
Amy L Schneider
Brigid M Regan
Gemma L Carvill
Heather C Mefford
Ingrid E Scheffer
Jacinta M McMahon
Joseph Sullivan
Julia Saykally
Katherine B Howell
P2860
P356
10.1212/NXG.0000000000000016
P577
2015-07-23T00:00:00Z